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17 results for Pizzo,+Lucilla

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ArticlesPeer ReviewedFull Text
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J. M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.816-825
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Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster
Author / Creator:Iyer, Janani ; Singh, Mayanglambam Dhruba ; Jensen, Matthew ; Patel, Payal ; Pizzo, Lucilla ; Huber, Emily ; Koerselman, Haley ; Weiner, Alexis T. ; Lepanto, Paola ; Vadodaria, Komal ; Kubina, Alexis ; Wang, Qingyu ; Talbert, Abigail ; Yennawar, Sneha ; Badano, Jose ; Manak, J. Robert ; Rolls, Melissa M. ; Krishnan, Arjun ; Girirajan, Santhosh
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-06, Vol.9 (1), p.2548-19, Article 2548
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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models
Author / Creator:Singh, Mayanglambam Dhruba ; Jensen, Matthew ; Lasser, Micaela ; Huber, Emily ; Yusuff, Tanzeen ; Pizzo, Lucilla ; Lifschutz, Brian ; Desai, Inshya ; Kubina, Alexis ; Yennawar, Sneha ; Kim, Sydney ; Iyer, Janani ; Rincon-Limas, Diego E. ; Lowery, Laura Anne ; Girirajan, Santhosh
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-02, Vol.16 (2), p.e1008590
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Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
Author / Creator:Pizzo, Lucilla ; Lasser, Micaela ; Yusuff, Tanzeen ; Jensen, Matthew ; Ingraham, Phoebe ; Huber, Emily ; Singh, Mayanglambam Dhruba ; Monahan, Connor ; Iyer, Janani ; Desai, Inshya ; Karthikeyan, Siddharth ; Gould, Dagny J. ; Yennawar, Sneha ; Weiner, Alexis T. ; Pounraja, Vijay Kumar ; Krishnan, Arjun ; Rolls, Melissa M. ; Lowery, Laura Anne ; Girirajan, Santhosh
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2021-04, Vol.17 (4), p.e1009112
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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion
Author / Creator:Jensen, Matthew ; Tyryshkina, Anastasia ; Pizzo, Lucilla ; Smolen, Corrine ; Das, Maitreya ; Huber, Emily ; Krishnan, Arjun ; Girirajan, Santhosh
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2021-10, Vol.13 (1), p.163-21, Article 163
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Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development
Author / Creator:Yusuff, Tanzeen ; Jensen, Matthew ; Yennawar, Sneha ; Pizzo, Lucilla ; Karthikeyan, Siddharth ; Gould, Dagny J. ; Sarker, Avik ; Gedvilaite, Erika ; Matsui, Yurika ; Iyer, Janani ; Lai, Zhi-Chun ; Girirajan, Santhosh
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-06, Vol.16 (6), p.e1008792-e1008792
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Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster
Author / Creator:Iyer, Janani ; Wang, Qingyu ; Le, Thanh ; Pizzo, Lucilla ; Grönke, Sebastian ; Ambegaokar, Surendra S ; Imai, Yuzuru ; Srivastava, Ashutosh ; Troisí, Beatriz Llamusí ; Mardon, Graeme ; Artero, Ruben ; Jackson, George R ; Isaacs, Adrian M ; Partridge, Linda ; Lu, Bingwei ; Kumar, Justin P ; Girirajan, Santhosh
Publisher:Oxford: Oxford University Press
Journal title:G3 : genes - genomes - genetics, 2016-05, Vol.6 (5), p.1427-1437
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Clinical utility gene card for: 16p12.2 microdeletion
Author / Creator:Pizzo, Lucilla ; Andrieux, Joris ; Amor, David J ; Girirajan, Santhosh
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.271-271
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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Author / Creator:Isles, Anthony R. ; Ingason, Andrés ; Lowther, Chelsea ; Walters, James ; Gawlick, Micha ; Stöber, Gerald ; Rees, Elliott ; Martin, Joanna ; Little, Rosie B. ; Potter, Harry ; Georgieva, Lyudmila ; Pizzo, Lucilla ; Ozaki, Norio ; Aleksic, Branko ; Kushima, Itaru ; Ikeda, Masashi ; Iwata, Nakao ; Levinson, Douglas F. ; Gejman, Pablo V. ; Shi, Jianxin ; Sanders, Alan R. ; Duan, Jubao ; Willis, Joseph ; Sisodiya, Sanjay ; Costain, Gregory ; Werge, Thomas M. ; Degenhardt, Franziska ; Giegling, Ina ; Rujescu, Dan ; Hreidarsson, Stefan J. ; Saemundsen, Evald ; Ahn, Joo Wook ; Ogilvie, Caroline ; Girirajan, Santhosh D. ; Stefansson, Hreinn ; Stefansson, Kari ; O’Donovan, Michael C. ; Owen, Michael J. ; Bassett, Anne ; Kirov, George
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1005993
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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
Author / Creator:Malone Jenkins, Sabrina ; Palmquist, Rachel N. ; Moore, Barry ; Boyden, Steven E. ; Nicholas, Thomas J. ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Farrell, J. Andrew R. ; Holt, Carson H. ; Rynearson, Shawn G. ; Solorzano, Chelsea M. ; Ward, Alistair ; Best, D. Hunter ; Al-Sweel, Najla ; Bentley, Dawn L. ; Brunelli, Luca ; Chow, Clement Y. ; Close, Devin W. ; Cormier, Michael J. ; Deshotel, Malia J. ; Durtschi, Jacob ; Eide, Erik J. ; Floyd, Luaiva ; Fredrickson, Eric K. ; Fulmer, Makenzie L. ; Hernandez, Edgar J. ; Kapron, Ashley L. ; Karren, Mary Anne ; Lewis, Robert G. ; Miller, Christine E. ; Murtaugh, L. Charles ; Nicholson, Kelsey E. ; Noble, Katherine ; O’Fallon, Brendan D. ; O’Shea, John M. ; Pattison, David C. ; Pedersen, Brent S. ; Petersen, Brandy J. ; Peterson, Bennet D. ; Pizzo, Lucilla ; Reynolds, Hayley M. ; Rindler, Paul ; Torr, Carrie B. ; Wen, Ting ; Yost, H. Joseph ; Zhao, Jian ; Yandell, Mark ; Marth, Gabor T. ; Quinlan, Aaron R. ; Carey, John C. ; Shayota, Brian J. ; Tristani-Firouzi, Martin ; Bonkowsky, Joshua L.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2025-03, Vol.10 (1), p.26-11, Article 26
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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion
Author / Creator:Jensen, Matthew ; Tyryskhina, Anastasia ; Pizzo, Lucilla ; Smolen, Corrine ; Das, Maitreya ; Huber, Emily ; Krishnan, Arjun ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-06
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Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development
Author / Creator:Yusuff, Tanzeen ; Jensen, Matthew ; Yennawar, Sneha ; Pizzo, Lucilla ; Karthikeyan, Siddharth ; Gould, Dagny J ; Sarker, Avik ; Gedvilaite, Erika ; Matsui, Yurika ; Iyer, Janani ; Zhi-Chun Lai ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-03
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Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
Author / Creator:Pizzo, Lucilla ; Lasser, Micaela ; Yusuff, Tanzeen ; Jensen, Matthew ; Ingraham, Phoebe ; Huber, Emily ; Mayanglambam Dhruba Singh ; Monahan, Connor ; Iyer, Janani ; Desai, Inshya ; Karthikeyan, Siddharth ; Gould, Dagny J ; Yennawar, Sneha ; Weiner, Alexis T ; Pounraja, Vijay Kumar ; Krishnan, Arjun ; Rolls, Melissa ; Lowery, Laura Anne ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-03
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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and X. laevis models
Author / Creator:Mayanglambam Dhruba Singh ; Jensen, Matthew ; Lasser, Micaela ; Huber, Emily ; Yusuff, Tanzeen ; Pizzo, Lucilla ; Lifschutz, Brian ; Desai, Inshya ; Kubina, Alexis ; Yennawar, Sneha ; Kim, Sydney ; Iyer, Janani ; Rincon-Limas, Diego E ; Lowery, Laura Anne ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-12
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Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion
Author / Creator:Iyer, Janani ; Mayanglambam Dhruba Singh ; Jensen, Matthew ; Patel, Payal ; Pizzo, Lucilla ; Huber, Emily ; Haley Koerselman ; Weiner, Alexis T ; Lepanto, Paola ; Vadodaria, Komal ; Kubina, Alexis ; Wang, Qingyu ; Talbert, Abigail ; Yennawar, Sneha ; Badano, Jose ; Manak, J Robert ; Rolls, Melissa M ; Krishnan, Arjun ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-02
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Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A ; Mannik, Katrin ; Krishnan, Arjun ; Mccready, Elizabeth ; Pichon, Olivier ; Cedric Le Caignec ; Anke Van Dijck ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Pawe Stankiewicz ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel ; Mari, Francesca ; Aurora Curr ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Luana Mandar ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Claire B n teau ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Jean Hubert Caberg ; Bucan, Maja ; Zeesman, Susan ; Ma gorzata Jm Nowaczyk ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R Frank ; Bertrand Isidor ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-04
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Quantitative assessment of eye phenotypes for functional genetic studies using Drosophila melanogaster
Author / Creator:Iyer, Janani ; Wang, Qingyu ; Le, Thanh ; Pizzo, Lucilla ; Gronke, Sebastian ; Ambegaokar, Surendra ; Imai, Yuzuru ; Srivastava, Ashutosh ; Beatriz Llamusi Troisi ; Mardon, Graeme ; Artero, Ruben ; Jackson, George R ; Isaacs, Adrian ; Partridge, Linda ; Lu, Bingwei ; Kumar, Justin ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2016-01
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

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Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster

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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

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Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

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Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

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Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

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Clinical utility gene card for: 16p12.2 microdeletion

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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

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Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

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Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and X. laevis models

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Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletion

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Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

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Quantitative assessment of eye phenotypes for functional genetic studies using Drosophila melanogaster

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